Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.Q485*
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SCNN1A

NM_001038.6:p.Q485*

Associated Papers

A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population.

Alzahrani AS et al.

Journal of the Endocrine Society, 2021

Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1.

Gopal-Kothandapani JS et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."